Canonical Allele Identifier: CA2078622040
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23334839_23334840delinsTA , CM000675.2:g.23334839_23334840delinsTA GRCh38
NC_000013.10:g.23908978_23908979delinsTA , CM000675.1:g.23908978_23908979delinsTA GRCh37
NC_000013.9:g.22806978_22806979delinsTA NCBI36
NG_012342.1:g.103863_103864delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+18945_2185+18946delinsTA ENSP00000508399.1:n.2185+18945_2185+18946delinsTA
ENST00000682944.1:c.9063_9064delinsTA ENSP00000507173.1:p.Ile3021=
ENST00000683210.1:c.2185+18945_2185+18946delinsTA ENSP00000506739.1:n.2185+18945_2185+18946delinsTA
ENST00000683270.1:c.6445+2582_6445+2583delinsTA ENSP00000507624.1:n.6445+2582_6445+2583delinsTA
ENST00000683367.1:c.2177-5356_2177-5355delinsTA ENSP00000507780.1:n.2177-5356_2177-5355delinsTA
ENST00000683489.1:c.2292-4888_2292-4887delinsTA ENSP00000508403.1:n.2292-4888_2292-4887delinsTA
ENST00000683680.1:c.2319-4888_2319-4887delinsTA ENSP00000507223.1:n.2319-4888_2319-4887delinsTA
ENST00000684163.1:c.2204-5356_2204-5355delinsTA ENSP00000508262.1:n.2204-5356_2204-5355delinsTA
ENST00000684196.1:n.4543-5356_4543-5355delinsTA
ENST00000684325.1:c.2186-13166_2186-13165delinsTA ENSP00000508121.1:n.2186-13166_2186-13165delinsTA
ENST00000684385.1:c.2221-5356_2221-5355delinsTA ENSP00000507855.1:n.2221-5356_2221-5355delinsTA
ENST00000684497.1:c.2186-12196_2186-12195delinsTA ENSP00000507057.1:n.2186-12196_2186-12195delinsTA
ENST00000382292.9:c.9036_9037delinsTA MANE Select ENSP00000371729.3:p.Ile3012=
ENST00000423156.2:c.2186-5356_2186-5355delinsTA ENSP00000390925.2:n.2186-5356_2186-5355delinsTA
ENST00000455470.6:c.2432-5356_2432-5355delinsTA ENSP00000406565.2:n.2432-5356_2432-5355delinsTA
ENST00000382292.7:c.9036_9037delinsTA ENSP00000371729.3:p.Ile3012=
ENST00000382298.7:c.9036_9037delinsTA ENSP00000371735.3:p.Ile3012=
ENST00000402364.1:c.6786_6787delinsTA ENSP00000385844.1:p.Ile2262=
ENST00000423156.1:c.1058-5356_1058-5355delinsTA ENSP00000390925.1:n.1058-5356_1058-5355delinsTA
ENST00000455470.5:c.2130-5356_2130-5355delinsTA
NM_001278055.1:c.8595_8596delinsTA NP_001264984.1:p.Ile2865=
NM_014363.5:c.9036_9037delinsTA NP_055178.3:p.Ile3012=
XM_005266338.1:c.9063_9064delinsTA XP_005266395.1:p.Ile3021=
XM_011535038.1:c.9087_9088delinsTA XP_011533340.1:p.Ile3029=
XM_011535039.1:c.9054_9055delinsTA XP_011533341.1:p.Ile3018=
XM_005266338.2:c.9063_9064delinsTA XP_005266395.1:p.Ile3021=
XM_011535039.2:c.9054_9055delinsTA XP_011533341.1:p.Ile3018=
XM_017020539.1:c.9027_9028delinsTA XP_016876028.1:p.Ile3009=
XM_024449337.1:c.9063_9064delinsTA XP_024305105.1:p.Ile3021=
NM_014363.6:c.9036_9037delinsTA MANE Select NP_055178.3:p.Ile3012=
NM_001278055.2:c.8595_8596delinsTA NP_001264984.1:p.Ile2865=